Detalhe da pesquisa
1.
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Am J Hum Genet
; 102(3): 364-374, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429573
2.
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Am J Hum Genet
; 101(3): 466-477, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886345
3.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Am J Hum Genet
; 97(2): 343-52, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26235985
4.
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res
; 25(2): 155-66, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25561519
5.
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.
Am J Hum Genet
; 95(1): 85-95, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24995868
6.
AMD and the alternative complement pathway: genetics and functional implications.
Hum Genomics
; 10(1): 23, 2016 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27329102
7.
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
J Cell Sci
; 125(Pt 2): 362-75, 2012 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22302990
8.
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Nat Genet
; 37(10): 1135-40, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16170314
9.
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Hum Mol Genet
; 20(18): 3699-709, 2011 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21665990
10.
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res
; 25(4): 609, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25834187
11.
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
Proc Natl Acad Sci U S A
; 107(16): 7395-400, 2010 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-20385826
12.
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
Proc Natl Acad Sci U S A
; 107(16): 7401-6, 2010 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-20385819
13.
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
Ophthalmology
; 119(9): 1874-85, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22705344
14.
Thermosensory and mechanosensory perception in human genetic disease.
Hum Mol Genet
; 18(R2): R146-55, 2009 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19808790
15.
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.
N Engl J Med
; 359(14): 1456-63, 2008 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-18753640
16.
Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.
Hum Hered
; 67(3): 193-205, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19077438
17.
Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies.
JCI Insight
; 4(22)2019 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31723061
18.
Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome.
Sci Rep
; 8(1): 10779, 2018 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30018450
19.
Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?
Ophthalmic Genet
; 28(2): 95-9, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17558852
20.
Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.
Vision Res
; 47(27): 3394-407, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18022666